PMID- 28058407
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2572-942X (Print)
IS  - 2572-942X (Linking)
VI  - 1
IP  - 7
DP  - 2016
TI  - Neuropathies of Stuve-Wiedemann Syndrome due to mutations in leukemia inhibitory 
      factor receptor (LIFR) gene.
PG  - 37-44
AB  - Stuve-Wiedemann syndrome (STWS; OMIM #610559) is a rare disease that results in 
      dysfunction of the autonomic nervous system, which controls involuntary processes 
      such as breathing rate and body temperature. In infants, this can result in 
      respiratory distress, feeding and swallowing difficulties, and hyperthermic 
      episodes. Individuals may sweat excessively when body temperature is not 
      elevated. Additionally, individuals have reduced ability to feel pain and may 
      lose reflexes such as the corneal reflex that normally causes one to blink, and 
      the patellar reflex resulting in the knee-jerk. STWS usually results in infant 
      mortality, yet some STWS patients survive into early adulthood. STWS is caused by 
      a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is 
      inherited in an autosomal-recessive pattern. Most LIFR mutations resulting in 
      STWS cause instability of the mRNA due to frameshift mutations leading to 
      premature stop codons, which prevent the formation of LIFR protein. STWS is 
      managed on a symptomatic basis as no treatment is currently available.
FAU - Oxford, Alexandra E
AU  - Oxford AE
AD  - Boise State University, Department of Biological Sciences, Biomolecular Research 
      Center, 1910 University Drive, Boise State University, Boise, ID 83725.
FAU - Jorcyk, Cheryl L
AU  - Jorcyk CL
AD  - Boise State University, Department of Biological Sciences, Biomolecular Research 
      Center, 1910 University Drive, Boise State University, Boise, ID 83725.
FAU - Oxford, Julia Thom
AU  - Oxford JT
AD  - Boise State University, Department of Biological Sciences, Biomolecular Research 
      Center, 1910 University Drive, Boise State University, Boise, ID 83725.
LA  - eng
GR  - P20 GM103408/GM/NIGMS NIH HHS/United States
GR  - P20 GM109095/GM/NIGMS NIH HHS/United States
PT  - Journal Article
PL  - United States
TA  - J Neurol Neuromedicine
JT  - Journal of neurology & neuromedicine
JID - 101684512
PMC - PMC5207777
MID - NIHMS830566
OTO - NOTNLM
OT  - Stuve-Wiedemann syndrome
OT  - autosomal-recessive
OT  - leukemia inhibitory factor receptor
OT  - neuropathies
EDAT- 2017/01/07 06:00
MHDA- 2017/01/07 06:01
PMCR- 2017/01/03
CRDT- 2017/01/07 06:00
PHST- 2017/01/07 06:00 [entrez]
PHST- 2017/01/07 06:00 [pubmed]
PHST- 2017/01/07 06:01 [medline]
PHST- 2017/01/03 00:00 [pmc-release]
AID - 10.29245/2572.942x/2016/7.1068 [doi]
PST - ppublish
SO  - J Neurol Neuromedicine. 2016;1(7):37-44. doi: 10.29245/2572.942x/2016/7.1068.